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2022
Mark Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency—Results from a nationwide population-based study
Savvidou, Antri ; Ivarsson, Liz ; Naess, Karin ; Eklund, Erik A. ^LU ; Lundgren, Johan ^LU ; Dahlin, Maria ; Frithiof, Deborah ; Sofou, Kalliopi and Darin, Niklas (2022) In Journal of Inherited Metabolic Disease 45(2). p.248-263
- Contribution to journal › Article
2021
Mark Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease
Hikmat, Omar ; Isohanni, Pirjo ; Keshavan, Nandaki ; Ferla, Matteo P. ; Fassone, Elisa ; Abbott, Mary Alice ; Bellusci, Marcello ; Darin, Niklas ; Dimmock, David and Ghezzi, Daniele , et al. (2021) In Annals of Clinical and Translational Neurology 8(11). p.2155-2165
- Contribution to journal › Article
2019
Mark Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy
Maffezzini, Camilla ; Laine, Isabelle ; Dallabona, Cristina ; Clemente, Paula ; Calvo-Garrido, Javier ; Wibom, Rolf ; Naess, Karin ; Barbaro, Michela ; Falk, Anna ^LU and Donnini, Claudia , et al. (2019) In Molecular Genetics & Genomic Medicine 7(6).
- Contribution to journal › Article
2013
Mark Cerebrospinal Fluid Brain Injury Biomarkers in Children: A Multicenter Study
Shahim, Pashtun ; Darin, Niklas ; Andreasson, Ulf ; Blennow, Kaj ; Jennions, Elizabeth ; Lundgren, Johan ^LU ; Mansson, Jan-Eric ; Naess, Karin ; Tornhage, Carl-Johan and Zetterberg, Henrik , et al. (2013) In Pediatric Neurology 49(1). p.31-39
- Contribution to journal › Article